HIGM2
MCID: IMM104
MIFTS: 46

Immunodeficiency with Hyper-Igm, Type 2 (HIGM2)

Categories: Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases

Aliases & Classifications for Immunodeficiency with Hyper-Igm, Type 2

MalaCards integrated aliases for Immunodeficiency with Hyper-Igm, Type 2:

Name: Immunodeficiency with Hyper-Igm, Type 2 57 13
Higm2 57 12 20 58 72 54
Hyper-Igm Syndrome Type 2 12 58 29 6
Activation-Induced Cytidine Deaminase Deficiency 12 58
Immunodeficiency with Hyper-Igm Type 2 12 15
Hyper-Igm Syndrome 2 57 72
Aid Deficiency 12 58
Hyper-Igm Immunodeficiency Syndrome, Type 2 70
Immunodeficiency, with Hyper Igm, Type 2 39
Immunodeficiency with Hyper Igm Type 2 20
Immunodeficiency with Hyper-Igm 2 72
Hyper-Igm Immunodeficiency Type 2 72
Hyper Igm Syndrome 2 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
recurrent bacterial infections
no opportunistic infections

Inheritance:
autosomal recessive


HPO:

31
immunodeficiency with hyper-igm, type 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060758
OMIM® 57 605258
OMIM Phenotypic Series 57 PS308230
MeSH 44 D053306
ICD10 32 D80.5
ICD10 via Orphanet 33 D80.5
UMLS via Orphanet 71 C1720956
Orphanet 58 ORPHA101089
MedGen 41 C1720956
UMLS 70 C1720956

Summaries for Immunodeficiency with Hyper-Igm, Type 2

OMIM® : 57 Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230). (605258) (Updated 20-May-2021)

MalaCards based summary : Immunodeficiency with Hyper-Igm, Type 2, also known as higm2, is related to dysgammaglobulinemia and cd40 ligand deficiency. An important gene associated with Immunodeficiency with Hyper-Igm, Type 2 is AICDA (Activation Induced Cytidine Deaminase), and among its related pathways/superpathways are Allograft rejection and NF-kappaB Signaling. Affiliated tissues include lymph node, monocytes and b cells, and related phenotypes are immunodeficiency and lymphadenopathy

Disease Ontology : 12 A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has material basis in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.

UniProtKB/Swiss-Prot : 72 Immunodeficiency with hyper-IgM 2: A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections.

Related Diseases for Immunodeficiency with Hyper-Igm, Type 2

Diseases related to Immunodeficiency with Hyper-Igm, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 dysgammaglobulinemia 30.2 TNFRSF13B ICOSLG
2 cd40 ligand deficiency 29.5 TNFRSF13B ICOSLG CD40LG CD40 AICDA
3 agammaglobulinemia, x-linked 29.5 TNFRSF13B RAG1 ICOSLG CD40LG CD40
4 agammaglobulinemia 29.5 TNFRSF13B RAG1 ICOSLG CD40LG CD40
5 autoimmune lymphoproliferative syndrome 29.3 RAG1 ICOSLG H2AC18
6 immunodeficiency with hyper-igm, type 1 28.0 UNG TNFRSF13B SUPT5H RAG1 IGHV4-38-2 ICOSLG
7 immune deficiency disease 28.0 UNG TNFRSF13B SUPT5H RAG1 ICOSLG H2AC18
8 congenital rubella 10.3 UNG CD40LG
9 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
10 light fixation seizure syndrome 10.3 CD40LG CD40
11 geotrichosis 10.2 CD40LG CD40
12 sulfamethoxazole allergy 10.2 CD40LG CD40
13 inflammatory bowel disease 16 10.2 CD40LG CD40
14 autoimmune disease 10.2
15 sjogren-larsson syndrome 10.2
16 uveitis 10.2
17 thrombocytopenia due to platelet alloimmunization 10.2
18 autoimmune hepatitis 10.2
19 gastritis 10.2
20 hemolytic anemia 10.2
21 diabetes mellitus 10.2
22 mulchandani-bhoj-conlin syndrome 10.2 ICOSLG CD40LG AICDA
23 autoimmune disease of exocrine system 10.1 ICOSLG H2AC18 CD40LG
24 anemia, autoimmune hemolytic 10.1 IGHV4-38-2 ICOSLG CD40LG
25 immunoglobulin a deficiency 1 10.1 TNFRSF13B CD40LG
26 blood protein disease 10.1 IGHV4-38-2 ICOSLG H2AC18
27 waldenstroem's macroglobulinemia 10.1 IGHV4-38-2 CD40LG CD40
28 leukocyte disease 10.1 IGHV4-38-2 ICOSLG H2AC18
29 x-linked recessive disease 10.1 ICOSLG H2AC18 CD40LG
30 coccidiosis 10.1 ICOSLG H2AC18 CD40
31 isolated growth hormone deficiency 10.1 UNG IGHV4-38-2 H2AC18 AICDA
32 autoimmune disease of endocrine system 10.1 ICOSLG H2AC18 CD40
33 x-linked monogenic disease 10.1 ICOSLG H2AC18 CD40LG
34 parasitic protozoa infectious disease 10.1 ICOSLG H2AC18 CD40
35 cone-rod dystrophy 1 10.0 TNFRSF13B ICOSLG H2AC18
36 primary bacterial infectious disease 10.0 ICOSLG H2AC18 CD40
37 immunodeficiency with hyper-igm, type 4 10.0 UNG CD40LG CD40 AICDA
38 selective immunoglobulin deficiency disease 10.0 TNFRSF13B ICOSLG
39 autoimmune disease of central nervous system 10.0 ICOSLG H2AC18 CD40
40 autoimmune disease of the nervous system 10.0 ICOSLG H2AC18 CD40
41 blood platelet disease 10.0 ICOSLG H2AC18 CD40LG
42 retinitis pigmentosa 23 10.0 RAG1 IGHV4-38-2 H2AC18
43 western equine encephalitis 10.0 RAG1 H2AC18
44 macroglobulinemia 10.0 TNFRSF13B CD40LG CD40
45 systemic scleroderma 10.0 ICOSLG H2AC18 CD40LG
46 progressive multifocal leukoencephalopathy 10.0 RAG1 ICOSLG CD40LG
47 chest wall lymphoma 10.0 IGHV4-38-2 BCL6
48 severe combined immunodeficiency with sensitivity to ionizing radiation 10.0 RAG1 H2AC18
49 blood coagulation disease 10.0 ICOSLG H2AC18 CD40LG
50 immunodeficiency with hyper-igm, type 3 10.0 ICOSLG CD40LG CD40 AICDA

Graphical network of the top 20 diseases related to Immunodeficiency with Hyper-Igm, Type 2:



Diseases related to Immunodeficiency with Hyper-Igm, Type 2

Symptoms & Phenotypes for Immunodeficiency with Hyper-Igm, Type 2

Human phenotypes related to Immunodeficiency with Hyper-Igm, Type 2:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 lymphadenopathy 31 HP:0002716
3 decreased circulating iga level 31 HP:0002720
4 decreased circulating igg level 31 HP:0004315
5 recurrent bacterial infections 31 HP:0002718
6 recurrent infection of the gastrointestinal tract 31 HP:0004798
7 recurrent upper and lower respiratory tract infections 31 HP:0200117
8 impaired ig class switch recombination 31 HP:0002959

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory:
recurrent upper and lower respiratory tract infections

Immunology:
low-absent igg, iga
normal-elevated igm
impaired ig class switch recombination (csr)
lymph node hyperplasia
giant germinal centers in lymph nodes
more
Abdomen Gastrointestinal:
recurrent gastrointestinal infections

Clinical features from OMIM®:

605258 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Immunodeficiency with Hyper-Igm, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.23 A1CF AICDA APOBEC1 APOBEC2 BCL6 CD40

Drugs & Therapeutics for Immunodeficiency with Hyper-Igm, Type 2

Search Clinical Trials , NIH Clinical Center for Immunodeficiency with Hyper-Igm, Type 2

Genetic Tests for Immunodeficiency with Hyper-Igm, Type 2

Genetic tests related to Immunodeficiency with Hyper-Igm, Type 2:

# Genetic test Affiliating Genes
1 Hyper-Igm Syndrome Type 2 29 AICDA

Anatomical Context for Immunodeficiency with Hyper-Igm, Type 2

MalaCards organs/tissues related to Immunodeficiency with Hyper-Igm, Type 2:

40
Lymph Node, Monocytes, B Cells, Bone Marrow, Eye, Bone, Myeloid

Publications for Immunodeficiency with Hyper-Igm, Type 2

Articles related to Immunodeficiency with Hyper-Igm, Type 2:

(show all 24)
# Title Authors PMID Year
1
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). 54 57 6 61
11007475 2000
2
A novel mouse model for the hyper-IgM syndrome: a spontaneous activation-induced cytidine deaminase mutation leading to complete loss of Ig class switching and reduced somatic hypermutation. 57
25252954 2014
3
Processive DNA demethylation via DNA deaminase-induced lesion resolution. 6
25025377 2014
4
Simultaneous in vitro characterisation of DNA deaminase function and associated DNA repair pathways. 6
24349193 2013
5
A structural basis for the biochemical behavior of activation-induced deoxycytidine deaminase class-switch recombination-defective hyper-IgM-2 mutants. 6
22715099 2012
6
Hyper-IgM syndrome--a case report and a clinical perspective. 6
21192628 2010
7
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency. 6
20652909 2010
8
Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutants. 6
16964591 2006
9
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. 6
15358621 2005
10
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. 6
14962793 2004
11
Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells. 57
9842907 1998
12
Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression. 57
9058789 1997
13
CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers. 57
7916370 1994
14
Hyper IgM syndrome associated with defective CD40-mediated B cell activation. 57
7523449 1994
15
Molecular analysis of activation-induced cytidine deaminase gene in immunoglobulin-E deficient patients. 54 61
19266080 2008
16
Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis. 61 54
14610488 2003
17
Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. 61 54
12840068 2003
18
Novel mutations in hyper-IgM syndrome type 2 and X-linked agammaglobulinemia detected in three patients with primary immunodeficiency disease. 61
33377626 2021
19
The RNA-binding protein ROD1/PTBP3 cotranscriptionally defines AID-loading sites to mediate antibody class switch in mammalian genomes. 61
30143796 2018
20
Activation-induced cytidine deaminase targets SUV4-20-mediated histone H4K20 trimethylation to class-switch recombination sites. 61
28790320 2017
21
Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland. 61
27142677 2016
22
A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome. 61
23803409 2013
23
Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease. 61
18716662 2008
24
Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. 61
15893695 2005

Variations for Immunodeficiency with Hyper-Igm, Type 2

ClinVar genetic disease variations for Immunodeficiency with Hyper-Igm, Type 2:

6 (show top 50) (show all 110)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AICDA NM_020661.4(AICDA):c.70C>T (p.Arg24Trp) SNV Pathogenic 5122 rs104894324 GRCh37: 12:8759547-8759547
GRCh38: 12:8606951-8606951
2 AICDA NM_020661.4(AICDA):c.203G>A (p.Trp68Ter) SNV Pathogenic 5123 rs104894325 GRCh37: 12:8758035-8758035
GRCh38: 12:8605439-8605439
3 AICDA NM_020661.4(AICDA):c.238T>C (p.Trp80Arg) SNV Pathogenic 5124 rs104894320 GRCh37: 12:8758000-8758000
GRCh38: 12:8605404-8605404
4 AICDA NM_020661.4(AICDA):c.317T>C (p.Leu106Pro) SNV Pathogenic 5125 rs104894321 GRCh37: 12:8757921-8757921
GRCh38: 12:8605325-8605325
5 AICDA NM_020661.4(AICDA):c.415A>G (p.Met139Val) SNV Pathogenic 5126 rs104894322 GRCh37: 12:8757823-8757823
GRCh38: 12:8605227-8605227
6 AICDA NM_020661.4(AICDA):c.441C>A (p.Cys147Ter) SNV Pathogenic 5127 rs104894323 GRCh37: 12:8757505-8757505
GRCh38: 12:8604909-8604909
7 AICDA NM_020661.4(AICDA):c.452T>C (p.Phe151Ser) SNV Pathogenic 5128 rs104894327 GRCh37: 12:8757494-8757494
GRCh38: 12:8604898-8604898
8 AICDA NM_020661.4(AICDA):c.334C>T (p.Arg112Cys) SNV Pathogenic 379250 rs1057520542 GRCh37: 12:8757904-8757904
GRCh38: 12:8605308-8605308
9 AICDA NC_000012.12:g.(?_8604264)_(8612787_?)del Deletion Pathogenic 657907 GRCh37: 12:8756860-8765383
GRCh38: 12:8604264-8612787
10 overlap with 4 genes NC_000012.12:g.(?_8456112)_(8612767_?)del Deletion Pathogenic 831306 GRCh37: 12:8608708-8765363
GRCh38:
11 AICDA NM_020661.4(AICDA):c.260G>C (p.Cys87Ser) SNV Pathogenic 939010 GRCh37: 12:8757978-8757978
GRCh38: 12:8605382-8605382
12 AICDA NM_020661.4(AICDA):c.22_40del (p.Arg8fs) Deletion Pathogenic 5129 rs387906328 GRCh37: 12:8759577-8759595
GRCh38: 12:8606981-8606999
13 AICDA NM_020661.4(AICDA):c.177_185del (p.Leu59_Leu62delinsPhe) Deletion Pathogenic 5130 rs387906329 GRCh37: 12:8758053-8758061
GRCh38: 12:8605457-8605465
14 AICDA NM_020661.4(AICDA):c.417G>T (p.Met139Ile) SNV Likely pathogenic 802819 rs1591744217 GRCh37: 12:8757821-8757821
GRCh38: 12:8605225-8605225
15 AICDA NM_020661.4(AICDA):c.274C>T (p.Arg92Ter) SNV Likely pathogenic 804464 rs1227905250 GRCh37: 12:8757964-8757964
GRCh38: 12:8605368-8605368
16 AICDA NM_020661.4(AICDA):c.259T>C (p.Cys87Arg) SNV Likely pathogenic 617969 rs762590894 GRCh37: 12:8757979-8757979
GRCh38: 12:8605383-8605383
17 AICDA NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) SNV Likely pathogenic 35655 rs193922703 GRCh37: 12:8757987-8757987
GRCh38: 12:8605391-8605391
18 AICDA NM_020661.4(AICDA):c.374G>A (p.Gly125Glu) SNV Likely pathogenic 35656 rs193922704 GRCh37: 12:8757864-8757864
GRCh38: 12:8605268-8605268
19 AICDA NM_020661.4(AICDA):c.48A>G (p.Lys16=) SNV Conflicting interpretations of pathogenicity 282568 rs186739900 GRCh37: 12:8759569-8759569
GRCh38: 12:8606973-8606973
20 AICDA NM_020661.4(AICDA):c.*1802T>C SNV Uncertain significance 881009 GRCh37: 12:8755078-8755078
GRCh38: 12:8602482-8602482
21 AICDA NM_020661.4(AICDA):c.*1684T>C SNV Uncertain significance 881011 GRCh37: 12:8755196-8755196
GRCh38: 12:8602600-8602600
22 AICDA NM_020661.4(AICDA):c.*1455G>A SNV Uncertain significance 881012 GRCh37: 12:8755425-8755425
GRCh38: 12:8602829-8602829
23 AICDA NM_020661.4(AICDA):c.353A>C (p.Asp118Ala) SNV Uncertain significance 849807 GRCh37: 12:8757885-8757885
GRCh38: 12:8605289-8605289
24 AICDA NM_020661.4(AICDA):c.368C>T (p.Pro123Leu) SNV Uncertain significance 851058 GRCh37: 12:8757870-8757870
GRCh38: 12:8605274-8605274
25 AICDA NM_020661.4(AICDA):c.197C>T (p.Ser66Leu) SNV Uncertain significance 861560 GRCh37: 12:8758041-8758041
GRCh38: 12:8605445-8605445
26 AICDA NM_020661.4(AICDA):c.71G>A (p.Arg24Gln) SNV Uncertain significance 863582 GRCh37: 12:8759546-8759546
GRCh38: 12:8606950-8606950
27 AICDA NM_020661.4(AICDA):c.569G>A (p.Arg190Gln) SNV Uncertain significance 881518 GRCh37: 12:8756908-8756908
GRCh38: 12:8604312-8604312
28 AICDA NM_020661.4(AICDA):c.*1453A>G SNV Uncertain significance 882366 GRCh37: 12:8755427-8755427
GRCh38: 12:8602831-8602831
29 AICDA NM_020661.4(AICDA):c.*1380A>G SNV Uncertain significance 882367 GRCh37: 12:8755500-8755500
GRCh38: 12:8602904-8602904
30 AICDA NM_020661.4(AICDA):c.*1313G>C SNV Uncertain significance 882368 GRCh37: 12:8755567-8755567
GRCh38: 12:8602971-8602971
31 AICDA NM_020661.4(AICDA):c.*1296C>T SNV Uncertain significance 882369 GRCh37: 12:8755584-8755584
GRCh38: 12:8602988-8602988
32 AICDA NM_020661.4(AICDA):c.*1226A>C SNV Uncertain significance 882370 GRCh37: 12:8755654-8755654
GRCh38: 12:8603058-8603058
33 AICDA NM_020661.4(AICDA):c.*1138A>G SNV Uncertain significance 882638 GRCh37: 12:8755742-8755742
GRCh38: 12:8603146-8603146
34 AICDA NM_020661.4(AICDA):c.376C>T (p.Leu126=) SNV Uncertain significance 882679 GRCh37: 12:8757862-8757862
GRCh38: 12:8605266-8605266
35 AICDA NM_020661.4(AICDA):c.*1025G>A SNV Uncertain significance 883411 GRCh37: 12:8755855-8755855
GRCh38: 12:8603259-8603259
36 AICDA NM_020661.4(AICDA):c.*1010C>T SNV Uncertain significance 883412 GRCh37: 12:8755870-8755870
GRCh38: 12:8603274-8603274
37 AICDA NM_020661.4(AICDA):c.*771T>A SNV Uncertain significance 883413 GRCh37: 12:8756109-8756109
GRCh38: 12:8603513-8603513
38 AICDA NM_020661.4(AICDA):c.-87A>T SNV Uncertain significance 883458 GRCh37: 12:8765450-8765450
GRCh38: 12:8612854-8612854
39 AICDA NM_020661.4(AICDA):c.405A>G (p.Gln135=) SNV Uncertain significance 127038 rs104894983 GRCh37: 12:8757833-8757833
GRCh38: 12:8605237-8605237
40 AICDA NM_020661.4(AICDA):c.428A>T (p.Asp143Val) SNV Uncertain significance 841691 GRCh37: 12:8757518-8757518
GRCh38: 12:8604922-8604922
41 AICDA NM_020661.4(AICDA):c.533G>C (p.Arg178Pro) SNV Uncertain significance 567318 rs1174012304 GRCh37: 12:8757413-8757413
GRCh38: 12:8604817-8604817
42 AICDA NM_020661.4(AICDA):c.160G>C (p.Gly54Arg) SNV Uncertain significance 574043 rs1565509771 GRCh37: 12:8758078-8758078
GRCh38: 12:8605482-8605482
43 AICDA NM_020661.4(AICDA):c.305C>T (p.Pro102Leu) SNV Uncertain significance 578221 rs1565509610 GRCh37: 12:8757933-8757933
GRCh38: 12:8605337-8605337
44 AICDA NM_020661.4(AICDA):c.557T>C (p.Val186Ala) SNV Uncertain significance 579775 rs1227243694 GRCh37: 12:8756920-8756920
GRCh38: 12:8604324-8604324
45 AICDA NM_020661.4(AICDA):c.552T>A (p.Tyr184Ter) SNV Uncertain significance 648538 rs1591743505 GRCh37: 12:8756925-8756925
GRCh38: 12:8604329-8604329
46 AICDA NM_020661.4(AICDA):c.289T>G (p.Phe97Val) SNV Uncertain significance 652261 rs1591744388 GRCh37: 12:8757949-8757949
GRCh38: 12:8605353-8605353
47 AICDA NM_020661.4(AICDA):c.391C>T (p.Arg131Cys) SNV Uncertain significance 658540 rs761363877 GRCh37: 12:8757847-8757847
GRCh38: 12:8605251-8605251
48 AICDA NM_020661.4(AICDA):c.148C>T (p.Arg50Cys) SNV Uncertain significance 660572 rs370700027 GRCh37: 12:8759469-8759469
GRCh38: 12:8606873-8606873
49 AICDA NM_020661.4(AICDA):c.*67C>T SNV Uncertain significance 310576 rs149095678 GRCh37: 12:8756813-8756813
GRCh38: 12:8604217-8604217
50 AICDA NM_020661.4(AICDA):c.*288C>T SNV Uncertain significance 310573 rs886049875 GRCh37: 12:8756592-8756592
GRCh38: 12:8603996-8603996

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency with Hyper-Igm, Type 2:

72
# Symbol AA change Variation ID SNP ID
1 AICDA p.Arg24Trp VAR_013774 rs104894324
2 AICDA p.Trp80Arg VAR_013775 rs104894320
3 AICDA p.Leu106Pro VAR_013776 rs104894321
4 AICDA p.Met139Val VAR_013777 rs104894322
5 AICDA p.Phe151Ser VAR_013778 rs104894327
6 AICDA p.Phe15Leu VAR_077563
7 AICDA p.Tyr31His VAR_077564
8 AICDA p.His130Pro VAR_077567

Expression for Immunodeficiency with Hyper-Igm, Type 2

Search GEO for disease gene expression data for Immunodeficiency with Hyper-Igm, Type 2.

Pathways for Immunodeficiency with Hyper-Igm, Type 2

GO Terms for Immunodeficiency with Hyper-Igm, Type 2

Cellular components related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.92 IGHV4-38-2 ICOSLG CD40LG CD40

Biological processes related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.8 APOBEC4 APOBEC2 APOBEC1 AICDA A1CF
2 tumor necrosis factor-mediated signaling pathway GO:0033209 9.7 TNFRSF13B CD40LG CD40
3 B cell differentiation GO:0030183 9.56 RAG1 CD40LG BCL6 AICDA
4 isotype switching GO:0045190 9.51 UNG CD40LG
5 DNA demethylation GO:0080111 9.5 APOBEC2 APOBEC1 AICDA
6 somatic hypermutation of immunoglobulin genes GO:0016446 9.49 UNG AICDA
7 DNA cytosine deamination GO:0070383 9.48 APOBEC1 AICDA
8 CD40 signaling pathway GO:0023035 9.46 CD40LG CD40
9 regulation of immunoglobulin production GO:0002637 9.43 CD40LG CD40
10 negative regulation of methylation-dependent chromatin silencing GO:0090310 9.37 APOBEC1 AICDA
11 mRNA modification GO:0016556 9.33 APOBEC2 APOBEC1 A1CF
12 cytidine to uridine editing GO:0016554 9.26 APOBEC2 APOBEC1 AICDA A1CF
13 cytidine deamination GO:0009972 8.92 CDA APOBEC2 APOBEC1 AICDA

Molecular functions related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.7 UNG RAG1 CDA APOBEC4 APOBEC2 APOBEC1
2 catalytic activity GO:0003824 9.35 RAG1 CDA APOBEC2 APOBEC1 AICDA
3 cytidine deaminase activity GO:0004126 8.92 CDA APOBEC2 APOBEC1 AICDA

Sources for Immunodeficiency with Hyper-Igm, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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